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Volumn 16, Issue 3, 2006, Pages 293-300

X-linked premature ovarian failure: a complex disease

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 15; FRAGILE X MENTAL RETARDATION PROTEIN; MESSENGER RNA;

EID: 33646517073     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gde.2006.04.005     Document Type: Review
Times cited : (66)

References (82)
  • 2
    • 21244434753 scopus 로고    scopus 로고
    • Premature ovarian failure
    • Goswami D., and Conway G. Premature ovarian failure. Hum Reprod Update 11 (2005) 391-410
    • (2005) Hum Reprod Update , vol.11 , pp. 391-410
    • Goswami, D.1    Conway, G.2
  • 3
    • 0037248189 scopus 로고    scopus 로고
    • Premature menopause in a multi-ethnic population study of the menopause transition
    • Luborsky J.L., Meyer P., Sowers M.F., Gold E.B., and Santoro N. Premature menopause in a multi-ethnic population study of the menopause transition. Hum Reprod 18 (2003) 199-206
    • (2003) Hum Reprod , vol.18 , pp. 199-206
    • Luborsky, J.L.1    Meyer, P.2    Sowers, M.F.3    Gold, E.B.4    Santoro, N.5
  • 4
    • 0026650943 scopus 로고
    • Autoimmunity and the ovary
    • Moncayo R., and Moncayo H.E. Autoimmunity and the ovary. Immunol Today 13 (1992) 255-258
    • (1992) Immunol Today , vol.13 , pp. 255-258
    • Moncayo, R.1    Moncayo, H.E.2
  • 5
    • 0036750580 scopus 로고    scopus 로고
    • Ovarian autoimmune disease and ovarian autoantibodies
    • Luborsky J. Ovarian autoimmune disease and ovarian autoantibodies. J Womens Health Gend Based Med 11 (2002) 585-599
    • (2002) J Womens Health Gend Based Med , vol.11 , pp. 585-599
    • Luborsky, J.1
  • 7
    • 3042601976 scopus 로고    scopus 로고
    • Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene
    • The authors provide the first demonstration of a mutation in the BMP15 gene associated with POF - in this case, the mutations were found in two sisters. The authors also report functional data showing that BMP15 has a role in human folliculogenesis.
    • Di Pasquale E., Beck-Peccoz P., and Persani L. Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet 75 (2004) 106-111. The authors provide the first demonstration of a mutation in the BMP15 gene associated with POF - in this case, the mutations were found in two sisters. The authors also report functional data showing that BMP15 has a role in human folliculogenesis.
    • (2004) Am J Hum Genet , vol.75 , pp. 106-111
    • Di Pasquale, E.1    Beck-Peccoz, P.2    Persani, L.3
  • 11
    • 0032103696 scopus 로고    scopus 로고
    • Turner syndrome and haploinsufficiency
    • Zinn A.R., and Ross J.L. Turner syndrome and haploinsufficiency. Curr Opin Genet Dev 8 (1998) 322-327
    • (1998) Curr Opin Genet Dev , vol.8 , pp. 322-327
    • Zinn, A.R.1    Ross, J.L.2
  • 12
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao E., Weiss B., Fukami M., Rump A., Niesler B., Mertz A., Muroya K., Binder G., Kirsch S., Winkelmann M., et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16 (1997) 54-63
    • (1997) Nat Genet , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3    Rump, A.4    Niesler, B.5    Mertz, A.6    Muroya, K.7    Binder, G.8    Kirsch, S.9    Winkelmann, M.10
  • 16
    • 33646529396 scopus 로고    scopus 로고
    • Blaschke RJ, Rappold G, The pseudoautosomal regions, SHOX and disease: Curr Opin Genet Dev 2006. 16: in press.
  • 17
    • 0023908744 scopus 로고
    • The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes
    • Speed R.M. The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78 (1988) 260-266
    • (1988) Hum Genet , vol.78 , pp. 260-266
    • Speed, R.M.1
  • 18
    • 0029021639 scopus 로고
    • Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features
    • Ogata T., and Matsuo N. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95 (1995) 607-629
    • (1995) Hum Genet , vol.95 , pp. 607-629
    • Ogata, T.1    Matsuo, N.2
  • 19
    • 0033616191 scopus 로고    scopus 로고
    • Ovarian differentiation and gonadal failure
    • Simpson J.L., and Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 89 (1999) 186-200
    • (1999) Am J Med Genet , vol.89 , pp. 186-200
    • Simpson, J.L.1    Rajkovic, A.2
  • 22
    • 29244466496 scopus 로고    scopus 로고
    • A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions
    • Lachlan K.L., Youings S., Costa T., Jacobs P.A., and Thomas N.S. A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions. Hum Genet 118 (2006) 640-651
    • (2006) Hum Genet , vol.118 , pp. 640-651
    • Lachlan, K.L.1    Youings, S.2    Costa, T.3    Jacobs, P.A.4    Thomas, N.S.5
  • 26
    • 0023250423 scopus 로고
    • Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome
    • Krauss C.M., Turksoy R.N., Atkins L., McLaughlin C., Brown L.G., and Page D.C. Familial premature ovarian failure due to an interstitial deletion of the long arm of the X chromosome. N Engl J Med 317 (1987) 125-131
    • (1987) N Engl J Med , vol.317 , pp. 125-131
    • Krauss, C.M.1    Turksoy, R.N.2    Atkins, L.3    McLaughlin, C.4    Brown, L.G.5    Page, D.C.6
  • 27
    • 33646496697 scopus 로고    scopus 로고
    • Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature
    • 10.1093/humrep/dei495. The authors report on a comparative analysis of different kinds of rearrangements in Xq and demonstrate a functional distinction between a POF critical region in Xq21 (critical region I) and one in the other part of Xq (critical region II). They also suggest a novel role for the critical region I in POF, not involving X-linked genes.
    • Rizzolio F., Bione S., Sala C., Goegan M., Gentile M., Gregato G., Rossi E., Pramparo T., Zuffardi O., and Toniolo D. Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature. Hum Reprod (2006) 10.1093/humrep/dei495. The authors report on a comparative analysis of different kinds of rearrangements in Xq and demonstrate a functional distinction between a POF critical region in Xq21 (critical region I) and one in the other part of Xq (critical region II). They also suggest a novel role for the critical region I in POF, not involving X-linked genes.
    • (2006) Hum Reprod
    • Rizzolio, F.1    Bione, S.2    Sala, C.3    Goegan, M.4    Gentile, M.5    Gregato, G.6    Rossi, E.7    Pramparo, T.8    Zuffardi, O.9    Toniolo, D.10
  • 28
    • 0023202626 scopus 로고
    • Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present
    • Schwartz C., Fitch N., Phelan M.C., Richer C.L., and Stevenson R. Two sisters with a distal deletion at the Xq26/Xq27 interface: DNA studies indicate that the gene locus for factor IX is present. Hum Genet 76 (1987) 54-57
    • (1987) Hum Genet , vol.76 , pp. 54-57
    • Schwartz, C.1    Fitch, N.2    Phelan, M.C.3    Richer, C.L.4    Stevenson, R.5
  • 29
    • 0021715844 scopus 로고
    • The phenotypic effects of small, distal Xq deletions
    • Trunca C., Therman E., and Rosenwaks Z. The phenotypic effects of small, distal Xq deletions. Hum Genet 68 (1984) 87-89
    • (1984) Hum Genet , vol.68 , pp. 87-89
    • Trunca, C.1    Therman, E.2    Rosenwaks, Z.3
  • 32
    • 31544483320 scopus 로고    scopus 로고
    • Heterozygosity mapping by quantitative fluorescent PCR reveals an interstitial deletion in Xq26.2-q28 associated with ovarian dysfunction
    • •] describe small deletions in Xq27-q28qter, each associated with POF and causing phenotypic variability. The authors also show that the severity of the POF phenotype depends on additional factors; identical deletions can cause different phenotypes.
    • •] describe small deletions in Xq27-q28qter, each associated with POF and causing phenotypic variability. The authors also show that the severity of the POF phenotype depends on additional factors; identical deletions can cause different phenotypes.
    • (2006) Hum Reprod , vol.21 , pp. 529-535
    • Fimiani, G.1    Laperuta, C.2    Falco, G.3    Ventruto, V.4    D'Urso, M.5    Ursini, M.V.6    Miano, M.G.7
  • 33
    • 0016823577 scopus 로고
    • Ontogeny of X-chromosome inactivation in the female germ line
    • Gartler S.M., Andina R., and Gant N. Ontogeny of X-chromosome inactivation in the female germ line. Exp Cell Res 91 (1975) 454-457
    • (1975) Exp Cell Res , vol.91 , pp. 454-457
    • Gartler, S.M.1    Andina, R.2    Gant, N.3
  • 34
    • 0025315275 scopus 로고
    • The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis
    • Therman E., and Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85 (1990) 175-183
    • (1990) Hum Genet , vol.85 , pp. 175-183
    • Therman, E.1    Susman, B.2
  • 35
    • 0025092789 scopus 로고
    • The critical region on the human Xq
    • Therman E., Laxova R., and Susman B. The critical region on the human Xq. Hum Genet 85 (1990) 455-461
    • (1990) Hum Genet , vol.85 , pp. 455-461
    • Therman, E.1    Laxova, R.2    Susman, B.3
  • 40
    • 0036052632 scopus 로고    scopus 로고
    • Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes
    • Prueitt R.L., Chen H., Barnes R.I., and Zinn A.R. Most X;autosome translocations associated with premature ovarian failure do not interrupt X-linked genes. Cytogenet Genome Res 97 (2002) 32-38
    • (2002) Cytogenet Genome Res , vol.97 , pp. 32-38
    • Prueitt, R.L.1    Chen, H.2    Barnes, R.I.3    Zinn, A.R.4
  • 41
    • 17344369363 scopus 로고    scopus 로고
    • A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility
    • Bione S., Sala C., Manzini C., Arrigo G., Zuffardi O., Banfi S., Borsani G., Jonveaux P., Philippe C., Zuccotti M., et al. A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet 62 (1998) 533-541
    • (1998) Am J Hum Genet , vol.62 , pp. 533-541
    • Bione, S.1    Sala, C.2    Manzini, C.3    Arrigo, G.4    Zuffardi, O.5    Banfi, S.6    Borsani, G.7    Jonveaux, P.8    Philippe, C.9    Zuccotti, M.10
  • 42
    • 0033934014 scopus 로고    scopus 로고
    • Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene
    • Prueitt R.L., Ross J.L., and Zinn A.R. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. Cytogenet Cell Genet 89 (2000) 44-50
    • (2000) Cytogenet Cell Genet , vol.89 , pp. 44-50
    • Prueitt, R.L.1    Ross, J.L.2    Zinn, A.R.3
  • 45
    • 11144339384 scopus 로고    scopus 로고
    • Long-range control of gene expression: emerging mechanisms and disruption in disease
    • Kleinjan D.A., and van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet 76 (2005) 8-32
    • (2005) Am J Hum Genet , vol.76 , pp. 8-32
    • Kleinjan, D.A.1    van Heyningen, V.2
  • 46
    • 0029066360 scopus 로고
    • Position effect variegation in Drosophila is associated with an altered chromatin structure
    • Wallrath L.L., and Elgin S.C. Position effect variegation in Drosophila is associated with an altered chromatin structure. Genes Dev 9 (1995) 1263-1277
    • (1995) Genes Dev , vol.9 , pp. 1263-1277
    • Wallrath, L.L.1    Elgin, S.C.2
  • 47
    • 0036499971 scopus 로고    scopus 로고
    • Central role of Drosophila SU(VAR)3-9 in histone H3-K9 methylation and heterochromatic gene silencing
    • Schotta G., Ebert A., Krauss V., Fischer A., Hoffmann J., Rea S., Jenuwein T., Dorn R., and Reuter G. Central role of Drosophila SU(VAR)3-9 in histone H3-K9 methylation and heterochromatic gene silencing. EMBO J 21 (2002) 1121-1131
    • (2002) EMBO J , vol.21 , pp. 1121-1131
    • Schotta, G.1    Ebert, A.2    Krauss, V.3    Fischer, A.4    Hoffmann, J.5    Rea, S.6    Jenuwein, T.7    Dorn, R.8    Reuter, G.9
  • 48
    • 0028180315 scopus 로고
    • The TGF-β superfamily: new members, new receptors, and new genetic tests of function in different organisms
    • Kingsley D.M. The TGF-β superfamily: new members, new receptors, and new genetic tests of function in different organisms. Genes Dev 8 (1994) 133-146
    • (1994) Genes Dev , vol.8 , pp. 133-146
    • Kingsley, D.M.1
  • 49
    • 6044240615 scopus 로고    scopus 로고
    • Bmps: multifunctional regulators of mammalian embryonic development
    • Hogan B.L. Bmps: multifunctional regulators of mammalian embryonic development. Harvey Lect 92 (1996) 83-98
    • (1996) Harvey Lect , vol.92 , pp. 83-98
    • Hogan, B.L.1
  • 50
    • 27944445868 scopus 로고    scopus 로고
    • TGFβ signalling in the development of ovarian function
    • Drummond A.E. TGFβ signalling in the development of ovarian function. Cell Tissue Res 322 (2005) 107-115
    • (2005) Cell Tissue Res , vol.322 , pp. 107-115
    • Drummond, A.E.1
  • 51
    • 7544238417 scopus 로고    scopus 로고
    • Synergistic roles of BMP15 and GDF9 in the development and function of the oocyte-cumulus cell complex in mice: genetic evidence for an oocyte-granulosa cell regulatory loop
    • Su Y.Q., Wu X., O'Brien M.J., Pendola F.L., Denegre J.N., Matzuk M.M., and Eppig J.J. Synergistic roles of BMP15 and GDF9 in the development and function of the oocyte-cumulus cell complex in mice: genetic evidence for an oocyte-granulosa cell regulatory loop. Dev Biol 276 (2004) 64-73
    • (2004) Dev Biol , vol.276 , pp. 64-73
    • Su, Y.Q.1    Wu, X.2    O'Brien, M.J.3    Pendola, F.L.4    Denegre, J.N.5    Matzuk, M.M.6    Eppig, J.J.7
  • 55
    • 33646512220 scopus 로고    scopus 로고
    • Garber K, Smith KT, Reines D, Warren ST, Transcription, translation, and fragile X syndrome: Curr Opin Genet Dev 2006. 16: in press.
  • 56
    • 0025905795 scopus 로고
    • Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
    • Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zhang F.P., et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65 (1991) 905-914
    • (1991) Cell , vol.65 , pp. 905-914
    • Verkerk, A.J.1    Pieretti, M.2    Sutcliffe, J.S.3    Fu, Y.H.4    Kuhl, D.P.5    Pizzuti, A.6    Reiner, O.7    Richards, S.8    Victoria, M.F.9    Zhang, F.P.10
  • 59
    • 0037320928 scopus 로고    scopus 로고
    • Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
    • The authors carry out an accurate epidemiological analysis of the size of the FMR1 premutation in POF patients.
    • Nolin S.L., Brown W.T., Glicksman A., Houck Jr. G.E., Gargano A.D., Sullivan A., Biancalana V., Brondum-Nielsen K., Hjalgrim H., Holinski-Feder E., et al. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet 72 (2003) 454-464. The authors carry out an accurate epidemiological analysis of the size of the FMR1 premutation in POF patients.
    • (2003) Am J Hum Genet , vol.72 , pp. 454-464
    • Nolin, S.L.1    Brown, W.T.2    Glicksman, A.3    Houck Jr., G.E.4    Gargano, A.D.5    Sullivan, A.6    Biancalana, V.7    Brondum-Nielsen, K.8    Hjalgrim, H.9    Holinski-Feder, E.10
  • 60
    • 0033940157 scopus 로고    scopus 로고
    • Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
    • Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., and Hagerman P.J. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am J Hum Genet 66 (2000) 6-15
    • (2000) Am J Hum Genet , vol.66 , pp. 6-15
    • Tassone, F.1    Hagerman, R.J.2    Taylor, A.K.3    Gane, L.W.4    Godfrey, T.E.5    Hagerman, P.J.6
  • 61
    • 0035394437 scopus 로고    scopus 로고
    • Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers
    • Kenneson A., Zhang F., Hagedorn C.H., and Warren S.T. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 10 (2001) 1449-1454
    • (2001) Hum Mol Genet , vol.10 , pp. 1449-1454
    • Kenneson, A.1    Zhang, F.2    Hagedorn, C.H.3    Warren, S.T.4
  • 64
    • 0036918690 scopus 로고    scopus 로고
    • Reduced FMR1 mRNA translation efficiency in fragile X patients with permutations
    • Primerano B., Tassone F., Hagerman R.J., Hagerman P., Amaldi F., and Bagni C. Reduced FMR1 mRNA translation efficiency in fragile X patients with permutations. RNA 8 (2002) 1482-1488
    • (2002) RNA , vol.8 , pp. 1482-1488
    • Primerano, B.1    Tassone, F.2    Hagerman, R.J.3    Hagerman, P.4    Amaldi, F.5    Bagni, C.6
  • 65
    • 1542359463 scopus 로고    scopus 로고
    • Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element
    • Beilina A., Tassone F., Schwartz P.H., Sahota P., and Hagerman P.J. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element. Hum Mol Genet 13 (2004) 543-549
    • (2004) Hum Mol Genet , vol.13 , pp. 543-549
    • Beilina, A.1    Tassone, F.2    Schwartz, P.H.3    Sahota, P.4    Hagerman, P.J.5
  • 66
    • 2342635196 scopus 로고    scopus 로고
    • The fragile-X premutation: a maturing perspective
    • Hagerman P.J., and Hagerman R.J. The fragile-X premutation: a maturing perspective. Am J Hum Genet 74 (2004) 805-816
    • (2004) Am J Hum Genet , vol.74 , pp. 805-816
    • Hagerman, P.J.1    Hagerman, R.J.2
  • 67
  • 70
    • 0031809893 scopus 로고    scopus 로고
    • Fragile X premutation screening in women with premature ovarian failure
    • Conway G.S., Payne N.N., Webb J., Murray A., and Jacobs P.A. Fragile X premutation screening in women with premature ovarian failure. Hum Reprod 13 (1998) 1184-1187
    • (1998) Hum Reprod , vol.13 , pp. 1184-1187
    • Conway, G.S.1    Payne, N.N.2    Webb, J.3    Murray, A.4    Jacobs, P.A.5
  • 71
    • 23944493381 scopus 로고    scopus 로고
    • FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure
    • Bretherick K.L., Fluker M.R., and Robinson W.P. FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure. Hum Genet 117 (2005) 376-382
    • (2005) Hum Genet , vol.117 , pp. 376-382
    • Bretherick, K.L.1    Fluker, M.R.2    Robinson, W.P.3
  • 72
    • 33645314905 scopus 로고    scopus 로고
    • Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation
    • 10.1093/humrep/dei432
    • Bodega B., Bione S., Dalpra L., Toniolo D., Ornaghi F., Vegetti W., Ginelli E., and Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum Reprod (2005) 10.1093/humrep/dei432
    • (2005) Hum Reprod
    • Bodega, B.1    Bione, S.2    Dalpra, L.3    Toniolo, D.4    Ornaghi, F.5    Vegetti, W.6    Ginelli, E.7    Marozzi, A.8
  • 73
    • 0033612244 scopus 로고    scopus 로고
    • Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data
    • Uzielli M.L., Guarducci S., Lapi E., Cecconi A., Ricci U., Ricotti G., Biondi C., Scarselli B., Vieri F., Scarnato P., et al. Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data. Am J Med Genet 84 (1999) 300-303
    • (1999) Am J Med Genet , vol.84 , pp. 300-303
    • Uzielli, M.L.1    Guarducci, S.2    Lapi, E.3    Cecconi, A.4    Ricci, U.5    Ricotti, G.6    Biondi, C.7    Scarselli, B.8    Vieri, F.9    Scarnato, P.10
  • 74
    • 0034128910 scopus 로고    scopus 로고
    • Reproductive and menstrual history of females with fragile X expansions
    • Murray A., Ennis S., MacSwiney F., Webb J., and Morton N.E. Reproductive and menstrual history of females with fragile X expansions. Eur J Hum Genet 8 (2000) 247-252
    • (2000) Eur J Hum Genet , vol.8 , pp. 247-252
    • Murray, A.1    Ennis, S.2    MacSwiney, F.3    Webb, J.4    Morton, N.E.5
  • 75
    • 0034481291 scopus 로고    scopus 로고
    • Premature ovarian failure and the FMR1 gene
    • Murray A. Premature ovarian failure and the FMR1 gene. Semin Reprod Med 18 (2000) 59-66
    • (2000) Semin Reprod Med , vol.18 , pp. 59-66
    • Murray, A.1
  • 76
    • 0032962890 scopus 로고    scopus 로고
    • Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women
    • Murray A., Webb J., MacSwiney F., Shipley E.L., Morton N.E., and Conway G.S. Serum concentrations of follicle stimulating hormone may predict premature ovarian failure in FRAXA premutation women. Hum Reprod 14 (1999) 1217-1218
    • (1999) Hum Reprod , vol.14 , pp. 1217-1218
    • Murray, A.1    Webb, J.2    MacSwiney, F.3    Shipley, E.L.4    Morton, N.E.5    Conway, G.S.6
  • 77
    • 0035104929 scopus 로고    scopus 로고
    • Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives
    • Hundscheid R.D., Braat D.D., Kiemeney L.A., Smits A.P., and Thomas C.M. Increased serum FSH in female fragile X premutation carriers with either regular menstrual cycles or on oral contraceptives. Hum Reprod 16 (2001) 457-462
    • (2001) Hum Reprod , vol.16 , pp. 457-462
    • Hundscheid, R.D.1    Braat, D.D.2    Kiemeney, L.A.3    Smits, A.P.4    Thomas, C.M.5
  • 80
    • 31344455020 scopus 로고    scopus 로고
    • Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
    • •] establish correlations between characteristics of the FMR1 premutation and the risk of POF. Both studies demonstrate a non-linear association between menopausal age and premutation size, suggesting that individuals with premutations between 80 and 100 CGG repeats are at greatest risk of developing POF; the authors also show that larger premutations are at lower risk and propose several mechanisms that might explain the results.
    • •] establish correlations between characteristics of the FMR1 premutation and the risk of POF. Both studies demonstrate a non-linear association between menopausal age and premutation size, suggesting that individuals with premutations between 80 and 100 CGG repeats are at greatest risk of developing POF; the authors also show that larger premutations are at lower risk and propose several mechanisms that might explain the results.
    • (2006) Eur J Hum Genet , vol.14 , pp. 253-255
    • Ennis, S.1    Ward, D.2    Murray, A.3
  • 81
    • 0346373752 scopus 로고    scopus 로고
    • RNA leaching of transcription factors disrupts transcription in myotonic dystrophy
    • Ebralidze A., Wang Y., Petkova V., Ebralidse K., and Junghans R.P. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 303 (2004) 383-387
    • (2004) Science , vol.303 , pp. 383-387
    • Ebralidze, A.1    Wang, Y.2    Petkova, V.3    Ebralidse, K.4    Junghans, R.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.